V28F (p.Val28Phe) variant of SDHC (Q99643)
V28F (p.Val28Phe) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; Pheochr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V28F (p.Val28Phe) variant details
- p.Val28Phe
- rs754818119
- ClinGen CA048634
- ClinVar RCV000707254
- ClinVar RCV001258164
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; Pheochr
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.57
- AlphaMissense 0.13
- MetaLR 0.69
- MetaSVM 0.08
- CADD 23.20
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)